Kisho

Kisho is an information platform, not a medical provider. Nothing on this site constitutes medical advice, diagnosis, or treatment recommendations. All content is aggregated from publicly available sources (including ClinicalTrials.gov, PubMed, FDA.gov, and Orphanet) and is provided for informational purposes only. Clinical trial eligibility, treatment decisions, and any health-related actions should always be discussed with a qualified healthcare professional. Kisho does not endorse any specific therapy, organization, or clinical trial. Terms of use · Privacy policy

mitochondrial complex IV deficiency, nuclear type 19 - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

mitochondrial complex IV deficiency, nuclear type 19

MONDO:0033654

Also known as:MC4DN19

Overview

Any mitochondrial complex IV deficiency in which the cause of the disease is a mutation in the PET117 gene. It is characterized by the onset of symptoms in infancy or early childhood. Affected individuals show global developmental delay and developmental regression with a loss of acquired motor and language skills. Additional features include motor dysfunction, such as hypokinesia and pyramidal signs. More variable features may include recurrent infections with immunodeficiency and possibly protein-losing enteropathy.

GeneticsAutosomal recessive · PET117 (chr 20)

OnsetJUVENILE

Clinical Presentation

Built from Human Phenotype Ontology (HPO) phenotype annotations and GeneReviews clinical descriptions. Features represent findings documented across known cases — not an exhaustive list of possible symptoms.

Features include always present findings: Slowness of movement (bradykinesia), Reduced movement (hypokinesia), Babinski sign, and Loss of previously acquired skills (developmental regression) and others; and common findings: Protein-losing enteropathy, Hyperglycinemia, and Recurrent respiratory infections. 14 total HPO annotations.

Organ System	Phenotype Count	Example Features
Brain and nerves	4	Slowness of movement (bradykinesia), Reduced movement (hypokinesia), Babinski sign

Genetic Landscape

PET117 function has not been fully characterized.

Mitochondrial complex IV deficiency, nuclear type 19 is associated with mutations in the PET117 gene on chromosome 20.

Diagnosis

Genetic testing for PET117 is available. Testing is considered confirmatory for diagnosis.

Prognosis

Phenotype severity distribution: 10 always present features, 3 common features.

Data assembled from 4 of 12 sources · Last updated Sep 19, 2026, 1:55 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:619063

GARD

Genetic and Rare Diseases Info Center

GARD:16416

Questions for Your Care Team

→Should my partner and I meet with a genetic counselor to discuss carrier status and family planning?
→Are there specialists or centers of excellence for this condition in my area?
→Is there a patient registry I should consider joining?

← Back to All Diseases

mitochondrial complex IV deficiency, nuclear type 19

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Medical References

External Resources

OMIM

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features